Targeted gene/syndrome under study
CEP76 / Joubert syndrome (ORPHA:475) or rod-cone dystrophy/retinitis pigmentosa (ORPHA:791)
We have identified bi-allelic variants of the CEP76 gene in patients with retinitis pigmentosa and/or Joubert syndrome (or equivalent). This could be a new autosomal recessive syndrome.
We would like to expand the cohort of patients with CEP76 variants in order to delineate the phenotype of this rare disease.
Francis Ramond – email@example.com
Genetics department, CHU Saint-Etienne, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes